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Filter Applied: dysmorphic (Click to remove)

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

The Exercise Test in Andersen Syndrome
Arch Neurol 56:352-356, Katz,J.S.,et al, 1999

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
J Pediatr 126:945-958, Soper,R.,et al, 1995

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Fragile X Chromosome & X-Linked Mental Retardation
CMA Journal 127:123-126, Larbrisseau,A.,et al, 1982

Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972



Showing articles 0 to 14 of 14